Total submissions: 10
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000163313 | SCV000213841 | likely benign | Hereditary cancer-predisposing syndrome | 2016-11-23 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Labcorp Genetics |
RCV000205888 | SCV000260637 | likely benign | Familial adenomatous polyposis 1 | 2024-01-04 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV000260617 | SCV000452054 | uncertain significance | APC-Associated Polyposis Disorders | 2016-06-14 | criteria provided, single submitter | clinical testing | |
| Counsyl | RCV000205888 | SCV000487776 | likely benign | Familial adenomatous polyposis 1 | 2015-11-20 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV000163313 | SCV000681910 | likely benign | Hereditary cancer-predisposing syndrome | 2016-10-31 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000602636 | SCV000722160 | likely benign | not specified | 2017-08-15 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000602636 | SCV001361152 | likely benign | not specified | 2019-02-14 | criteria provided, single submitter | clinical testing | Variant summary: The variant, APC c.8100T>C results in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 1.1e-05 in 277052 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.8100T>C in individuals affected with Familial Adenomatous Polyposis and no experimental evidence demonstrating its impact on protein function have been reported. Six clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as likely benign (X5) or uncertain significance (X1). Based on the evidence outlined above, the variant was classified as likely benign. |
| Sema4, |
RCV000163313 | SCV002531570 | likely benign | Hereditary cancer-predisposing syndrome | 2021-08-10 | criteria provided, single submitter | curation | |
| Myriad Genetics, |
RCV000205888 | SCV004018732 | benign | Familial adenomatous polyposis 1 | 2023-02-17 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing. |
| All of Us Research Program, |
RCV003995245 | SCV004835763 | likely benign | Classic or attenuated familial adenomatous polyposis | 2024-02-05 | criteria provided, single submitter | clinical testing |